Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway (Q37649077)

21 August 2017

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway (English)

1 reference

neuronal ceroid lipofuscinosis

21 August 2017

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jared Sterneckert

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Hans Schöler

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

23

Susan L Cotman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Xenia Lojewski

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

John F Staropoli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Sunita Biswas-Legrand

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Alexandra M Simas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Larissa Haliw

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Martin K Selig

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Scott H Coppel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Kendrick A Goss

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Uma Chandrachud

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Steven D Sheridan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Diane Lucente

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Katherine B Sims

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Dolan Sondhi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Ronald G Crystal

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Peter Reinhardt

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Stephen J Haggarty

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Alexander Storch

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Andreas Hermann

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

James F Gusella

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

publication date

23 November 2013

1 reference

21 August 2017

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

2005-2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

8 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3959814/fullTextXML

inferred from PubMed Central ID database lookup

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Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

23 August 2017

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23 August 2017

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The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly

23 August 2017

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23 August 2017

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Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

23 August 2017

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23 August 2017

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23 August 2017

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Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis

23 August 2017

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Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]

23 August 2017

1 reference

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Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease

23 August 2017

1 reference

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Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

23 August 2017

1 reference

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Purification and characterization of a tripeptidyl peptidase I from human osteoclastomas: evidence for its role in bone resorption

23 August 2017

1 reference

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Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum

23 August 2017

1 reference

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The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

6 September 2017

1 reference

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Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipofuscinoses.

6 September 2017

1 reference

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Direct reprogramming of human neural stem cells by OCT4.

6 September 2017

1 reference

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Multipotent neural stem cells from the adult tegmentum with dopaminergic potential develop essential properties of functional neurons

14 September 2017

1 reference

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Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

14 September 2017

1 reference

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Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses

14 September 2017

1 reference

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Lysosomal positioning coordinates cellular nutrient responses.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Loss of hrs in the central nervous system causes accumulation of ubiquitinated proteins and neurodegeneration

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Distinct roles for Tsg101 and Hrs in multivesicular body formation and inward vesiculation

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Mitochondrial changes in motor neurons of homozygotes of leucine 126 TT deletion SOD1 transgenic mice

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Transgene expression and RNA interference in embryonic stem cells

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.

1 September 2018

1 reference

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Neuronal ceroid lipofuscinoses

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth

2 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24271013

12 December 2020

inferred from PubMed ID database lookup

Efficient generation of neural stem cell-like cells from adult human bone marrow stromal cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24271013

12 December 2020

inferred from PubMed ID database lookup

What are the requirements for lysosomal degradation of subunit c of mitochondrial ATPase?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24271013

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDT596

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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